Use of ektacytometry in patients with PIEZO1 variants of unknown significance [0.03%]
PIEZO1变异意义不明患者的光学拉普拉斯叠层血细胞计数法使用研究
Guzmán López de Hontanar Torres,Montserrat López Rubio,Rafael Del Orbe Barreto et al.
Guzmán López de Hontanar Torres et al.
An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease [0.03%]
一项针对I型戈谢病成人患者的回顾性分析的骨髓负荷评分分析
Marie-Claude Miron,Dominick Amato,Rakesh Mohankumar et al.
Marie-Claude Miron et al.
Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations [0.03%]
SBDS和DNAJC21基因变异的骨髓衰竭病例的临床及遗传特征：非典型表现及隐匿性表型
Swetha Palla,Prateek Bhatia,Sudhanshi Raina et al.
Swetha Palla et al.
Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure to thrive with biallelic pathogenic variants in the SBDS (SDS1; 260400) gene. Recently, biallelic v...
Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia [0.03%]
丹那唑导致获得性再生障碍性贫血患者的心血管代谢特征发生显著变化
Hitesh Gurjar,Ankur Jain,Sujata Wangkheimayum et al.
Hitesh Gurjar et al.
Background: Danazol is frequently used in treating patients with acquired aplastic anaemia (AA) in resource-constraint settings. We aimed to evaluate the cardiometabolic side effects of Danazol in patients with AA. ...
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France [0.03%]
法国β+型海洋性贫血伴镰刀细胞性病基因型及其HbA水平的全面分析
Cecilia Baltus,Stéphane Moutereau,Nathalie Couque et al.
Cecilia Baltus et al.
We retrospectively reviewed the clinical records of 228 HbS/β+-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: 20 % (group 3; n = 31). Routine red blood cells and hemo...
Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study [0.03%]
与镰状细胞疾病患者出现腿部溃疡有关的因素：一项病例对照研究
Josimare Aparecida Otoni Spira,Mery Natali Silva Abreu,Antônio Carlos Martins Guedes et al.
Josimare Aparecida Otoni Spira et al.
Aim: To identify factors associated with the occurrence of leg ulcers in people with sickle cell disease. Methods: Unpaired case-contro...
Culprit or innocent bystander? The case of a new fast-moving hemoglobin J variant in a pregnant woman [0.03%]
罪魁祸首还是无辜的旁观者？一位孕妇身上新发现的一种快速移动的血红蛋白J变异体的案例
Ilaria Cerroni,Valeria Renola,Alessia Micalizzi et al.
Ilaria Cerroni et al.
Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study [0.03%]
RPS17和SLC4A1在黑扇贫血症中的作用揭示：一项斑马鱼研究
Kyeongmin Kim,Hyerin Lee,Soyul Ahn et al.
Kyeongmin Kim et al.
Diamond-Blackfan Anemia (DBA) is a rare congenital disorder characterized by macrocytic anemia, physical abnormalities, and growth delays. Although RPS19 mutations have been more extensively studied in DBA compared to other ribosomal protei...
Richard A King,Rami Khoriaty
Richard A King
Under steady state conditions, humans must produce ∼2 million red blood cells per second to sustain normal red blood cell counts and hemoglobin levels. Ineffective erythropoiesis, also termed dyserythropoiesis, is a process by which erythr...
Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia [0.03%]
Diamond-Blackfan贫血和类似Diamond-Blackfan贫血患儿的免疫缺陷
Iman Ragab,Sara Makkeyah,Noura Hassan et al.
Iman Ragab et al.
Background: Diamond-Blackfan anemia Syndrome (DBAS) is a ribosomopathy with erythroid failure. DBA-like picture occurs with non-ribosomal mutation and a normal rRNA maturation. Immunodeficiency in patients with DBAS is no...